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how is Congenital insensitivity to pain with anhidrosis diagnosed. how is •Congenital insensitivity to pain with...

how is Congenital insensitivity to pain with anhidrosis diagnosed.

how is •Congenital insensitivity to pain with anhidrosis treated

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Expert Solution

Congenital insensitivity to pain with anhidrosis,also known as hereditary sensory and autonomic neuropathy type IV, is an autosomal recessive disorder characterized by the congenital lack of pain sensation, inability to sweat, episodes of recurrent hyperpyrexia, mental retardation, and self mutilating behavior.

Prognosis for the hereditary sensory and autoinomic neropathy disorders is improving, and they are no longer considered only as diseases of childhood. The prognosis appears to depend on the degree of severity in each person, and ability to control the complications of the disease. However, with careful medica medical attention, people with CIPA can live into adulthood.

The main problems are related to the high temperature and the bone problems that are present in CIPA. The disease may be fatal in the first years of life if hyperpyrexia is not properly managed, and it is most frequently reported cause of death.

Orthopedic problems are also one of the most characteristic and serious complications of CIPA. In order children, osteomyelitis and bone and /or joint deformities require surgeries, which sometimes nay need amputations.

CIPA is caused by changes in the NTRK1 gene. Inheritance is autosomal recessive. There is still no cure for CIPA. Treatment is aimed at controlling body temperature, preventing self injuary,and treating orthopedic problems, as soon as possible.


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